Variant: rs796051881 

    present in Gene: PEX5
    present in Chromosome: 12
    Position on Chromosome: 7202274
    Alleles of this Variant: -/A

rs796051881 in PEX5 gene and Asthma PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Chondrodysplasia Punctata, Rhizomelic PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Congenital cataract PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Epilepsy PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Growth delay PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Microcephaly (physical finding) PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Peripheral Neuropathy PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Severe intellectual disability PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.